ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2876+10T>C

gnomAD frequency: 0.00001  dbSNP: rs773692164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002174225 SCV002475002 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500372 SCV002807676 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543906 SCV004791588 likely benign WDR19-related disorder 2019-04-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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